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Updated: May 29, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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病例报告:RORB3外子中的3'拼接部位变异与儿童的异常性泛性有关

Dandan Shi1, Nannan Li2, Caifang Fan1

  • 1Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

Frontiers in genetics
|February 3, 2025
PubMed
概括

在一个儿科患者中,确定了与视网膜酸受体相关的孤儿受体β (RORB) 基因的可能致病变体. 这一发现扩大了与一般性和缺席发作相关的已知RORB突变.

关键词:
在RORB中,RORB是RORB.三人组-WES 在线播放案例报告案例报告是一种.拼接 拼接 拼接 拼接

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